Variant report

Variant	rs3094244
Chromosome Location	chr5:74816185-74816186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74793165..74795664-chr5:74814824..74817209,2	K562	blood:
2	chr5:74815294..74818982-chr5:74820247..74823584,4	K562	blood:
3	chr5:74808217..74810593-chr5:74816041..74817596,2	K562	blood:
4	chr5:74811101..74813110-chr5:74815287..74817345,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4432861	1.00[AFR][1000 genomes]
rs4704215	1.00[AFR][1000 genomes]
rs4704216	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs5744653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6875480	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3385195	chr5:74810245-74843686	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv882203	chr5:74811497-74832919	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv882204	chr5:74811497-74856142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74808200-74817600	Weak transcription	Esophagus	oesophagus
2	chr5:74808600-74817600	Weak transcription	Thymus	Thymus
3	chr5:74808600-74819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:74808800-74816200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:74808800-74816200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:74808800-74817600	Weak transcription	Aorta	Aorta
7	chr5:74808800-74817600	Weak transcription	Fetal Thymus	thymus
8	chr5:74808800-74817800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:74809000-74816200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:74809000-74816200	Weak transcription	Small Intestine	intestine
12	chr5:74809000-74819600	Weak transcription	Placenta	Placenta
13	chr5:74809000-74820000	Weak transcription	Colonic Mucosa	Colon
14	chr5:74809400-74816200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:74809400-74816200	Weak transcription	Ovary	ovary
16	chr5:74809400-74816400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:74809400-74816400	Weak transcription	Osteobl	bone
18	chr5:74809400-74817600	Weak transcription	HSMM	muscle
19	chr5:74809400-74817800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:74809400-74830600	Weak transcription	Fetal Kidney	kidney
21	chr5:74809600-74816200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:74809600-74816200	Weak transcription	Liver	Liver
23	chr5:74809600-74816600	Weak transcription	NHDF-Ad	bronchial
24	chr5:74809600-74817600	Weak transcription	HMEC	breast
25	chr5:74809600-74820600	Weak transcription	Brain Angular Gyrus	brain
26	chr5:74809600-74830200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:74809600-74839400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:74809800-74816400	Weak transcription	A549	lung
29	chr5:74809800-74817600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:74809800-74817600	Weak transcription	NHLF	lung
31	chr5:74810000-74816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:74810000-74816600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:74810200-74816200	Weak transcription	Adipose Nuclei	Adipose
34	chr5:74810400-74816200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:74810400-74816200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
37	chr5:74810600-74816400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:74810600-74816400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:74810600-74816600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:74810800-74816200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:74810800-74816800	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:74812000-74816200	Weak transcription	Primary B cells from cord blood	blood
43	chr5:74812200-74816200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:74812400-74818400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:74813800-74818400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:74814000-74817800	Weak transcription	NH-A	brain
47	chr5:74814600-74816600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:74814600-74818400	ZNF genes & repeats	GM12878-XiMat	blood
49	chr5:74815000-74816200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:74815000-74816200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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